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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:GSD IV, Neuromuscular Form, Congenital
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Accession:DOID:9001038 term browser browse the term
Synonyms:primary_id: MESH:C565542;   RDO:0014150


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GSD IV, Neuromuscular Form, Congenital term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO ClinVar Annotator: match by term: GSD IV, NEUROMUSCULAR FORM, CONGENITAL ClinVar PMID:8059607 PMID:8613547 PMID:9536098 PMID:15019703 PMID:15452297 More... NCBI chr11:8,734,806...9,000,226
Ensembl chr11:8,734,820...9,000,210 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      musculoskeletal system disease 8463
        neuromuscular disease 3218
          GSD IV, Neuromuscular Form, Congenital 1
Path 2
Term Annotations click to browse term
  disease 19134
    Developmental Disease 14661
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13710
        genetic disease 13375
          inherited metabolic disorder 6621
            carbohydrate metabolic disorder 3414
              glycogen metabolism disorder 303
                glycogen storage disease 303
                  glycogen storage disease IV 4
                    GSD IV, Neuromuscular Form, Congenital 1
paths to the root